Variant report

Variant	rs554135444
Chromosome Location	chr4:8182279-8182280
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr4:8182089-8182598	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr4:8182038-8182627	MCF10A-Er-Src	breast:	n/a	chr4:8182225-8182233 chr4:8182221-8182232
3	STAT3	chr4:8182114-8182354	MCF10A-Er-Src	breast:	n/a	n/a
4	USF1	chr4:8182098-8182407	ECC-1	luminal epithelium:	n/a	n/a
5	STAT3	chr4:8181965-8182397	MCF10A-Er-Src	breast:	n/a	n/a
6	BCL3	chr4:8182148-8182928	GM12878	blood:	n/a	n/a
7	MAFK	chr4:8182059-8182349	Hela-S3	cervix:	n/a	n/a
8	PRDM1	chr4:8182125-8182309	Hela-S3	cervix:	n/a	chr4:8182206-8182221
9	FOS	chr4:8182026-8182538	MCF10A-Er-Src	breast:	n/a	chr4:8182225-8182233 chr4:8182221-8182232
10	USF2	chr4:8182078-8182423	Hela-S3	cervix:	n/a	chr4:8182239-8182250 chr4:8182263-8182274
11	FOS	chr4:8182089-8182392	MCF10A-Er-Src	breast:	n/a	chr4:8182225-8182233 chr4:8182221-8182232
12	NFATC1	chr4:8182143-8182934	GM12878	blood:	n/a	n/a
13	MYC	chr4:8182152-8182543	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:8181697..8186152-chr4:8199354..8203571,7	MCF-7	breast:
2	chr4:8181018..8183687-chr4:8185277..8188138,2	MCF-7	breast:
3	chr4:8169433..8172146-chr4:8180743..8183455,2	MCF-7	breast:
4	chr4:8012081..8014539-chr4:8181803..8184689,2	MCF-7	breast:

Variant related genes	Relation type
SH3TC1	TF binding region
ENSG00000125089	Chromatin interaction
ENSG00000163995	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878591	chr4:8063501-8207083	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1010809	chr4:8097627-8292324	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv878593	chr4:8125788-8233341	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv461216	chr4:8154534-8276411	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv593626	chr4:8154534-8276411	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv878594	chr4:8154534-8286916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv470012	chr4:8171401-8233341	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv878596	chr4:8171401-8254784	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv878597	chr4:8171401-8294196	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
13	esv3357282	chr4:8180352-8184850	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv3383741	chr4:8181152-8184050	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv3329331	chr4:8181252-8184050	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8170600-8183200	Weak transcription	Right Atrium	heart
2	chr4:8176000-8190200	Weak transcription	Psoas Muscle	Psoas
3	chr4:8178600-8185000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr4:8179000-8182400	Weak transcription	Fetal Intestine Small	intestine
5	chr4:8179000-8182800	Weak transcription	Pancreas	Pancrea
6	chr4:8179200-8182800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:8179200-8183200	Weak transcription	Left Ventricle	heart
8	chr4:8179200-8183400	Weak transcription	Thymus	Thymus
9	chr4:8179400-8189800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:8179800-8182400	Weak transcription	Fetal Kidney	kidney
11	chr4:8179800-8183000	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:8180000-8182600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:8181000-8182400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr4:8181200-8182400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:8181600-8182400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr4:8181600-8183400	Enhancers	Hela-S3	cervix
17	chr4:8181600-8186000	Enhancers	Stomach Mucosa	stomach
18	chr4:8181800-8184000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:8181800-8186400	Enhancers	Right Ventricle	heart
20	chr4:8182000-8182400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:8182000-8183400	Weak transcription	Spleen	Spleen
22	chr4:8182000-8183800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:8182200-8182400	Enhancers	A549	lung
24	chr4:8182200-8182800	Enhancers	HMEC	breast
25	chr4:8182200-8183000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr4:8182200-8184000	Enhancers	Esophagus	oesophagus
27	chr4:8182200-8185400	Enhancers	Fetal Heart	heart
28	chr4:8182200-8187800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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